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Exome-wide association study on Hashimoto encephalopathy with thyroiditis

Research Project

Project/Area Number 26670481
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Collagenous pathology/Allergology
Research InstitutionTokyo Metropolitan Geriatric Hospital and Institute of Gerontology

Principal Investigator

Tanaka Masashi  地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 協力研究員 (60155166)

Co-Investigator(Kenkyū-buntansha) Makoto Yoneda  福井県立大学, 看護福祉学部, 教授 (70270551)
Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords橋本脳症 / 慢性甲状腺炎 / エクソーム解析 / HLA-DRA / 抗N末端α-エノラーゼ / 関連解析 / エクソン領域 / 機能的多型 / アミノ酸置換 / 自己免疫疾患 / 橋本甲状腺炎 / 遺伝子多型
Outline of Final Research Achievements

Hashimoto encephalopathy associated with thyroiditis is an autoimmune disease characterized by dementia and psychological symptoms. In the present study, we analyzed 240K functional SNPs in the whole exome region. In autopsied cases, chronic lymphocytic thyroiditis was associated with polymorphisms in the HLA-DRA locus. Comparison between the anti-NAE Ab-positive Hashimoto encephalopathy group and the anti-NAE Ab-negative Hashimoto thyroiditis group revealed several missense mutations in the genes encoding proteins that potentially influence their antigenicity. These studies would pave the way to identification of genetic polymorphisms associated with pathogenesis, subtype classification, and variations in response to steroid therapy of Hashimoto encephalopathy.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • Research Products

    (9 results)

All 2016 2015 2014

All Journal Article (9 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 9 results,  Open Access: 8 results,  Acknowledgement Compliant: 3 results)

  • [Journal Article] Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated with Extreme Longevity in East Asian Populations2016

    • Author(s)
      Kumpei Tanisawa, Masashi Tanaka, et al.
    • Journal Title

      J Gerontol A Biol Sci Med Sci

      Volume: 00 Pages: 1-10

    • DOI

      10.1093/gerona/glw074

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Association of the chromodomain helicase DNA-binding protein 4 (CHD4) missense variation p.D140E with cancer: potential interaction with smoking2015

    • Author(s)
      Miki Yamada, Noriko Sato, Shinobu Ikeda, Tomio Arai, Motoji Sawabe, Seijiro Mori, Yoshiji Yamada, Masaaki Muramatsu, Masashi Tanaka
    • Journal Title

      Genes Chromosomes Cancer

      Volume: 54 Issue: 2 Pages: 122-128

    • DOI

      10.1002/gcc.22227

    • Related Report
      2015 Annual Research Report 2014 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Associations between the orexin (hypocretin) receptor 2 gene polymorphism Val308Ile and nicotine dependence in genome-wide and subsequent association studies.2015

    • Author(s)
      Nishizawa D et al.
    • Journal Title

      Mol Brain.

      Volume: 8 Issue: 1 Pages: 50-50

    • DOI

      10.1186/s13041-015-0142-x

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] (2014) GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases2015

    • Author(s)
      Yasunori Fujita, Masafumi Ito, Toshio Kojima, Shuichi Yatsuga, Yasutoshi Koga, Masashi Tanaka
    • Journal Title

      Mitochondrion

      Volume: 20 Pages: 34-42

    • DOI

      10.1016/j.mito.2014.10.006

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.2015

    • Author(s)
      Yatsuga S, Fujita Y, Ishii A, Fukumoto Y, Arahata H, Kakuma T, Kojima T, Ito M, Tanaka M, Saiki R, Koga Y.
    • Journal Title

      Ann Neurol

      Volume: 78 Issue: 5 Pages: 814-823

    • DOI

      10.1002/ana.24506

    • NAID

      120007135881

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese2015

    • Author(s)
      Zhou H, Mori S, Tanaka M, Sawabe M, Arai T, Muramatsu M, Mieno MN, Shinkai S, Yamada Y, Miyachi M, Murakami H, Sanada K, Ito H.
    • Journal Title

      Journal of Bone and Mineral Metabolism.

      Volume: ‐ Issue: 6 Pages: 694-700

    • DOI

      10.1007/s00774-014-0636-0

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Polygenic risk for hypertriglyceridemia is attenuated in high-fitness men.2014

    • Author(s)
      Tanisawa K, Ito T, Sun XM, Cao ZB, Sakamoto S, Tanaka M, Higuchi M.
    • Journal Title

      Physiol Genomics.

      Volume: 46 Issue: 6 Pages: 207-215

    • DOI

      10.1152/physiolgenomics.00182.2013

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] High cardiorespiratory fitness can reduce glycated hemoglobin levels regardless of polygenic risk for Type 2 diabetes mellitus in nondiabetic Japanese Men2014

    • Author(s)
      Kunpei Tanisawa, Tomoko Ito, Xiaomin Sun, Ryuken Ise, Satomi Oshima, Zhen-Bo Cao, Shizuo Sakamoto, Masashi Tanaka, Mitsuru Higuchi
    • Journal Title

      Physiol Genomics

      Volume: 46 Issue: 14 Pages: 497-504

    • DOI

      10.1152/physiolgenomics.00027.2014

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Strong influence of dietary intake and physical activity on body fatness in elderly Japanese men: age-associated loss of polygenic resistance against obesity2014

    • Author(s)
      Tanisawa K, Ito T, Sun X, Ise R, Oshima S, Cao ZB, Sakamoto S, Tanaka M, Higuchi M.
    • Journal Title

      Genes & Nutrition

      Volume: 9(5) Issue: 5 Pages: 416-416

    • DOI

      10.1007/s12263-014-0416-4

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access

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Published: 2014-04-04   Modified: 2017-05-10  

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